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Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year

research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

1 citations , June 2022 in “JCRPE”

Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.

research Berardinelli–Seip syndrome

February 2026 in “Endokrynologia Polska”

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature

research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature

December 2024 in “Livers”

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

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